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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 12376 - 12400 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:2106
  • myotonia congenita
  • Aliases:
    • Batten Turner congenital myopathy
    • Thomsen and Becker disease
Mus musculus (house mouse)
DOID:0111596
  • distal arthrogryposis type 1
  • Aliases:
    • DA1
    • digitotalar dysmorphism
Mus musculus (house mouse)
DOID:0111269
  • autosomal dominant hyaline body myopathy
  • Aliases:
    • MSMA
    • Myopathy, myosin storage, autosomal dominant
    • congenital myopathy 7A
    • myopathy with lysis of type I myofibrils
Mus musculus (house mouse)
DOID:0080719
  • congenital myopathy 6
  • Aliases:
    • inclusion body myopathy 3
    • proximal myopathy and ophthalmoplegia
Mus musculus (house mouse)
DOID:0111602
  • distal arthrogryposis type 2B3
  • Aliases:
    • DA2B3
    • distal arthrogryposis type 2B3 (Sheldon-Hall)
Mus musculus (house mouse)
DOID:0111605
  • distal arthrogryposis type 2A
  • Aliases:
    • DA2A
    • distal arthrogryposis type 2A (Freeman-Sheldon)
Mus musculus (house mouse)
DOID:11720
  • distal myopathy
  • Aliases:
    • distal muscular dystrophy
Mus musculus (house mouse)
DOID:0050784
  • primary progressive multiple sclerosis
  • Aliases:
    • PPMS
    • Primary-progressive MS
Homo sapiens (human)
DOID:2378
  • relapsing-remitting multiple sclerosis
  • Aliases:
    • RRMS
    • Relapsing-remitting MS
Homo sapiens (human)
DOID:0110527
  • autosomal recessive nonsyndromic deafness 8
  • Aliases:
    • DFNB10
    • DFNB8
    • NRSD8
    • autosomal recessive deafness 10
    • autosomal recessive deafness 8
    • childhood-onset neurosensory autosomal recessive deafness 8
    • neurosensory nonsyndromic recessive deafness 8
Mus musculus (house mouse)
DOID:0050770
  • polycystic liver disease
  • Aliases:
    • congenital cystic liver disease
    • congenital hepatic cyst
    • fibrocystic liver disease
Mus musculus (house mouse)
DOID:9408
  • acute myocardial infarction
Rattus norvegicus (Norway rat)
DOID:0080839
  • X-linked warfarin sensitivity
Mus musculus (house mouse)
DOID:0111899
  • X-linked thrombophilia due to factor IX defect
  • Aliases:
    • THPH8
Mus musculus (house mouse)
DOID:0111141
  • delayed sleep phase syndrome
  • Aliases:
    • DSPD
Homo sapiens (human)
DOID:11252
  • microcytic anemia
Rattus norvegicus (Norway rat)
DOID:0080437
  • developmental and epileptic encephalopathy 31A
  • Aliases:
    • DEE31
    • DEE31A
    • developmental and epileptic encephalopathy 31
    • early infantile epileptic encephalopathy 31
Rattus norvegicus (Norway rat)
DOID:0110197
  • Charcot-Marie-Tooth disease dominant intermediate B
  • Aliases:
    • CMTDI1
    • CMTDIB
    • Charcot-Marie-Tooth neuropathy dominant intermediate B
    • DI-CMTB
Rattus norvegicus (Norway rat)
DOID:0070376
  • developmental and epileptic encephalopathy 31B
  • Aliases:
    • DEE31B
Rattus norvegicus (Norway rat)
DOID:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Rattus norvegicus (Norway rat)
DOID:1827
  • idiopathic generalized epilepsy
  • Aliases:
    • Generalised epilepsy
Rattus norvegicus (Norway rat)
DOID:854
  • collagen disease
  • Aliases:
    • collagen disorder
Rattus norvegicus (Norway rat)
DOID:2476
  • hereditary spastic paraplegia
  • Aliases:
    • French settlement disease
    • Strumpell-Lorrain disease
    • familial spastic paraplegia
    • hereditary spastic paraparesis
Rattus norvegicus (Norway rat)
DOID:801
  • hemarthrosis
  • Aliases:
    • Haemarthrosis of shoulder joint
    • Haemarthrosis of the ankle and foot
    • Haemarthrosis of the pelvic region and thigh
    • Hemarthrosis involving ankle and foot
    • Hemarthrosis involving forearm
    • Hemarthrosis involving hand
    • Hemarthrosis involving lower leg
    • Hemarthrosis involving pelvic region and thigh
    • Hemarthrosis involving shoulder region
    • Hemarthrosis involving upper arm
    • Hemarthrosis of ankle and/or foot
    • Hemarthrosis of forearm
    • Hemarthrosis of hand
    • Hemarthrosis of lower leg
    • Hemarthrosis of shoulder
    • Hemarthrosis of shoulder region
    • Hemarthrosis of the ankle and foot
    • Hemarthrosis of the ankle and/or foot
    • Hemarthrosis of the forearm
    • Hemarthrosis of the hand
    • Hemarthrosis of the lower leg
    • Hemarthrosis of the pelvic region and thigh
    • Hemarthrosis of the shoulder region
    • Hemarthrosis of the upper arm
    • Hemarthrosis of upper arm
Mus musculus (house mouse)
DOID:0060574
  • von Willebrand's disease 2
  • Aliases:
    • VWD type 2
    • VWD2
    • von Willebrand disease type 2
    • von Willebrand disease type II
Mus musculus (house mouse)
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Last updated: December 9, 2024